Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		0.030 0.667 3 2005 2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C1304470
Disease: Generalized vitiligo
Generalized vitiligo 		0.030 1.000 3 2005 2008
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0409974
Disease: Lupus Erythematosus
Lupus Erythematosus 		0.030 1.000 3 2008 2015
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis 		0.030 0.667 3 2011 2012
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD) 		0.030 0.667 3 2009 2012
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		0.030 0.667 3 2010 2020
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.030 0.667 3 2009 2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C1960272
Disease: Latent autoimmune diabetes mellitus in adult
Latent autoimmune diabetes mellitus in adult 		0.030 1.000 3 2008 2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.030 1.000 3 2006 2017
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0024131
Disease: Lupus Vulgaris
Lupus Vulgaris 		0.030 1.000 3 2008 2015
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases 		0.030 1.000 3 2009 2015
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
Lupus Erythematosus, Discoid 		0.030 1.000 3 2008 2015
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0011847
Disease: Diabetes
Diabetes 		0.030 1.000 3 2006 2017
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0014060
Disease: Encephalitis, St. Louis
Encephalitis, St. Louis 		0.030 1.000 3 2004 2014
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0205734
Disease: Diabetes, Autoimmune
Diabetes, Autoimmune 		0.020 1.000 2 2008 2009
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.020 1.000 2 2007 2017
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		0.020 0.500 2 2006 2015
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C1739108
Disease: Latent Autoimmune Diabetes in Adults
Latent Autoimmune Diabetes in Adults 		0.710 1.000 2 2018 2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		0.020 1.000 2 2008 2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.020 1.000 2 2006 2017
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0178468
Disease: Autoimmune thyroid disease
Autoimmune thyroid disease 		0.020 1.000 2 2005 2010
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0004623
Disease: Bacterial Infections
Bacterial Infections 		0.020 1.000 2 2008 2008
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0042384
Disease: Vasculitis
Vasculitis 		0.020 0.500 2 2008 2012
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0027121
Disease: Myositis
Myositis 		0.700 1.000 2 2016 2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0001403
Disease: Addison Disease
Addison Disease 		0.020 1.000 2 2005 2012